GHRL — 28 ClinVar variants
All ClinVar germline GHRL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 13 flagged for review →
1 Conflicting · 5 Benign · 4 Likely benign · 18 Uncertain significance
Full GHRL gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 13
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
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GHRL p.Leu72Met
Conflicting
Single submitter
inherited obesity
Predictors lean, ClinVar uncertain 10
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- GHRL p.Ala68Ser Uncertain significance Single submitter
- GHRL p.Arg34Thr Uncertain significance Single submitter
- GHRL p.Arg75Trp Uncertain significance Single submitter
- GHRL p.Gln33Arg Uncertain significance Single submitter
- GHRL p.Gln36Arg Uncertain significance Single submitter
- GHRL p.Gly55Asp Uncertain significance Single submitter
- GHRL p.Phe80Ser Uncertain significance Single submitter
- GHRL p.Pro59Leu Uncertain significance Single submitter
- GHRL p.Trp56Leu Uncertain significance Single submitter
- GHRL p.Val89Ile Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All GHRL variants
Conflicting classifications of pathogenicity 1
- p.Leu72Met Single submitter inherited obesity ⚠
Benign 5
- c.109-36G>A Multiple submitters
- c.226-286C>T Multiple submitters
- c.226-313A>G Multiple submitters
- c.334+138T>G Multiple submitters
- p.Gln90Leu Multiple submitters obesity disorder
Likely benign 4
- c.-786G>A Single submitter
- c.-787C>T Single submitter
- p.Ala54Gly Single submitter
- p.Arg58His Single submitter
Uncertain significance 18
- c.225+2T>G Single submitter
- c.-771G>A Single submitter
- c.-789C>T Single submitter
- p.Ala68Ser Single submitter ⚠
- p.Arg34Thr Single submitter ⚠
- p.Arg75Trp Single submitter ⚠
- p.Gln33Arg Single submitter ⚠
- p.Gln36Arg Single submitter ⚠
- p.Gly24Ala Single submitter
- p.Gly55Asp Single submitter ⚠
- p.His94Asp Single submitter
- p.Ile105Asn Single submitter ⚠
- p.Leu28Pro Single submitter ⚠
- p.Lys85fs Single submitter obesity disorder
- p.Phe80Ser Single submitter ⚠
- p.Pro59Leu Single submitter ⚠
- p.Trp56Leu Single submitter ⚠
- p.Val89Ile Single submitter ⚠